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COG5-CDG with a Mild Neurohepatic Presentation
The conserved oligomeric Golgi (COG) complex is an eight subunit protein involved in the retrograde transport of Golgi components. It affects the localization of several Golgi glycosyltransferases and hence is involved in N- and O-glycosylation. Genetic defects in this complex belong to the rapidly...
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| Hlavní autoři: | , , , , , , , |
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| Médium: | Artigo |
| Jazyk: | Inglês |
| Vydáno: |
Springer Berlin Heidelberg
2011
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| Témata: | |
| On-line přístup: | https://ncbi.nlm.nih.gov/pmc/articles/PMC3509859/ https://ncbi.nlm.nih.gov/pubmed/23430875 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1007/8904_2011_61 |
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